Purpose: High resolution (four-digit) allele genotyping was used to determine the association of the HLA-A and -B alleles with Behçet's disease (BD) in Japanese patients. We also analyzed our results for the association of these alleles with the individual clinical features of BD.
Subjects and methods: We enrolled 389 Japanese BD patients and 254 healthy controls in this study. Genotyping of the HLA-A, -B alleles was performed by the PCR-SSOP-Luminex method and the phenotype frequencies of the HLA-A, and -B alleles were estimated.
Results: Some HLA-A and -B alleles were significantly associated with BD. When we recalculated the phenotype frequencies for the HLA-B*51-negative subjects to exclude the effects of the linkage disequilibrium with the HLA-B*51 allele, HLA-A*2601 was most strongly associated with BD. In addition, we observed a significant association between several clinical features and some alleles, including HLA-A*2602.
Conclusion: The significant increase of HLA-A* 26 in the BD patients without HLA-B*51 suggests that this allele itself might be one of the primary susceptibility genes involved in the development of BD independently of HLA-B*51.